ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)

dbSNP: rs1555961677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584983 SCV000693324 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199544 SCV001162665 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV000584983 SCV002759671 likely pathogenic not provided 2019-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530868 SCV003467357 pathogenic Primary ciliary dyskinesia 2021-12-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPGR (ORF15)-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RPGR (ORF15) protein in which other variant(s) (p.Leu1130Lysfs*13) have been determined to be pathogenic (PMID: 22264887; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 493514). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu869*) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 284 amino acid(s) of the RPGR (ORF15) protein.

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